A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279464



Internal ID22154925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:35163847..35174110hg38UCSC Ensembl
Outerchr6:35131624..35141887hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381571
hg191571
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212813
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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